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History of Canavan

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Last Updated: Monday, 19 May 2014 15:47

The disease is named for Myrtelle Canavan who first described the disorder in 1931. She was one of the first female pathologists and is best known for her description of Canavan.

In 1993 Dr. Rueben Matalon discovered the gene that causes Canavan from tissues provided by several Canavan families. This discovery led to carrier screening and prenatal testing for the disease.

Canavan Review Article

Canavan disease was first described in 1931, and this review traces the progress made in the past 8 decades to understand the disease by enumerating current hypotheses and ongoing palliative measures to alleviate patient symptoms in the context of the latest advances in the field.